Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

Nature Genetics

Volumn 17, Issue 2, 1997, Pages 194-197

  Gu, Su Min ^a   Thompson, Debra A ^b   Srikumari, C R Srisailapathy ^c   Lorenz, Birgit ^d   Finckh, Ulrich ^a   Nicoletti, Aileen ^b   Murthy, K R ^e   Rathmann, Michaela ^a   Kumaramanickavel, Govindasamy ^f   Denton, Michael J ^g   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c Dr ALM Postgraduate Institute of Basic Medical Sciences   (India)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e Prabha Eye Clinic and Research Centre   (India)

^f MEDICAL RESEARCH FOUNDATION   (India)

^g UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; EYE PROTEIN; PRIMER DNA; PROTEIN; RPE65 PROTEIN, BOS TAURUS; RPE65 PROTEIN, HUMAN;

ARTICLE; CHILD; CONSANGUINITY; EXON; FEMALE; GENETIC LINKAGE; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RECESSIVE GENE; RETINA DEGENERATION;

AGE OF ONSET; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA PRIMERS; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS; RETINAL DEGENERATION;

EID: 0031255068     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1097-194     Document Type: Letter

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